Table 3 Putative predispositions in familial breast cancer families and probands

Family 1

1

2

3

4

6

7

8

GPRIN1

G protein regulated inducer of neurite outgrowth 1

chr5:176026123

c.T713C

p.L238S

Exonic

0.91

D

-

+

+

+

+

+

-

5

PINK1

PTEN induced putative kinase 1

chr1:20972051

c.960-2A > G

Splicing

NA

NA

-

-

+

+

-

-

-

2

POLK

Polymerase (DNA directed) kappa

chr5:74892737

c.A2219G

p.H740R

Exonic

0.62

P

-

-

-

+

-

-

-

1

Family 2

1

2

3

4

5

6

KAT6B

K(lysine) acetyltransferase 6B

chr10:76789128

c.G4546T

p.D1516Y

Exonic

0.95

D

-

+

+

+

+

+

5

KAT6B

K(lysine) acetyltransferase 6B

chr10:76789311

c.C4729T

p.R1577C

Exonic

0.96

D

-

+

+

+

+

+

5

NOTCH2

Notch 2

chr1:120459167

c.C6178T

p.R2060C

Exonic

0.99

D

-

-

+

-

-

+

2

Family 3

1

2

4

5

6

NANP

N-acetylneuraminic acid phosphatase

chr20:25596725

c.A583G

p.I195V

Exonic

0.98

D

+

-

+

-

-

2

PHKB

phosphorylase kinase, beta

chr16:47628126

c.1204 + 1G > T

Splicing

NA

NA

-

+

-

+

-

2

Proband

1

JAKMIP3

Janus kinase and microtubule interacting protein 3

chr10:133955524

c.G1574C

p.G525A

Exonic

1.00

D

2

POLQ

Polymerase (DNA directed), theta

chr3:121207798

c.A3980C

p.Q1327P

Exonic

1.00

D

3

DUX2

Double homeobox 2

chr10:135494906

Splicing

NA

NA

4

UBE2L3

Ubiquitin-conjugating enzyme E2L 3

chr22:21975938

c.G349A

p.E117K

Exonic

0.96

D

.

.

5

RAD23B

RAD23 homolog B (S. cerevisiae)

chr9:110087260

c.C1028T

p.P343L

Exonic

0.99

D

.

.

7

GATA3

GATA binding protein 3

chr10:8100630

c.C604T

p.R202C

Exonic

0.92

D

8

KAT6B

K(lysine) acetyltransferase 6B

chr10:76744854

c.G2390A

p.S797N

Exonic

0.98

D

9

LIG1

Ligase I, DNA, ATP-dependent

chr19:48637322

c.G1525A

p.E509K

Exonic

0.95

D

.

.

10

LIG4

Ligase IV, DNA, ATP-dependent

chr13:108862463

c.G1154A

p.R385K

Exonic

1.00

D

14

NOTCH2

Notch 2

chr1:120529603

c.G854A

p.R285H

Exonic

1.00

D

15

ABL1

c-abl oncogene 1, non-receptor tyrosine kinase

chr9:133729493

c.G122A

p.G41D

Exonic

0.92

D

16

TNK2

Tyrosine kinase, non-receptor, 2

chr3:195596385

c.C1760T

p.P587L

Exonic

1.00

D

17

NFRKB

Nuclear factor related to kappaB binding protein

chr11:129755398

c.G611A

p.R204H

Exonic

1.00

D

18

NFKBIZ

Nuclear factor of kappa light polypeptide gene enhancer

chr3:101576029

Splicing

NA

NA

19

SMG1

SMG1 phosphatidylinositol 3-kinase-related kinase

chr16:18879624

c.C3083T

p.T1028M

Exonic

0.99

D

20

PRKCQ

Protein kinase C, theta

chr10:6528042

c.G855C

p.Q285H

Exonic

1.00

D

21

ADRA2A

Adrenoceptor alpha 2A

chr10:112838117

c.C363G

p.C121W

Exonic

1.00

D

22

PPFIA4

Protein tyrosine phosphatase, receptor type

chr1:203025582

c.C668T

p.T223M

Exonic

0.92

D